If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| 232 | 126 | 479 | 588 | 31 | 10 | 1411 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| CLCN1 | 216 | 122 | 442 | 554 | 30 | 10 | 1319 |
| CLCN1, LOC123956257 | 15 | 4 | 37 | 34 | 1 | 0 | 91 |
| CLCN1, FAM131B | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 230 | 79 | 470 | 577 | 31 | 0 | 1387 |
| Fulgent Genetics, Fulgent Genetics | 32 | 46 | 7 | 5 | 0 | 0 | 90 |
| Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences | 1 | 6 | 0 | 8 | 1 | 0 | 16 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 9 | 9 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 0 | 0 | 6 | 0 | 0 | 0 | 6 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 3 | 0 | 2 | 0 | 0 | 0 | 5 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 1 | 1 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| New York Genome Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |